Detalles de la búsqueda
1.
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
Orphanet J Rare Dis;
19(1): 202, 2024 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38760795
2.
A glimpse into past, present, and future DNA sequencing.
Mol Genet Metab;
110(1-2): 3-24, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23742747
3.
Quantitative Clinical Chemistry Proteomics (qCCP) using mass spectrometry: general characteristics and application.
Clin Chem Lab Med;
51(5): 919-35, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23183755
4.
Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism.
Rapid Commun Mass Spectrom;
26(18): 2131-44, 2012 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-22886809
5.
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme.
Mol Genet Metab;
104(4): 470-5, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22000754
6.
Trace elements in dried blood spots as potential discriminating features for metabolic disorder diagnosis in newborns.
Metallomics;
13(5)2021 05 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-33930140
7.
Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24].
Mol Genet Metab;
114(3): 484, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25877474
8.
Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker.
Medicine (Baltimore);
98(15): e15221, 2019 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-30985723
9.
Clinical mass spectrometry proteomics (cMSP) for medical laboratory: What does the future hold?
Clin Chim Acta;
467: 51-58, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27265523
10.
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Orphanet J Rare Dis;
9: 59, 2014 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-24767253
11.
Neuropeptide Kyotorphin (Tyrosyl-Arginine) has Decreased Levels in the Cerebro-Spinal Fluid of Alzheimer's Disease Patients: Potential Diagnostic and Pharmacological Implications.
Front Aging Neurosci;
5: 68, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24198785
12.
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
Eur J Paediatr Neurol;
17(4): 383-9, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23395213
13.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Orphanet J Rare Dis;
8: 102, 2013 Jul 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23842438
14.
Selenium speciation in cow milk obtained after supplementation with different selenium forms to the cow feed using liquid chromatography coupled with hydride generation-atomic fluorescence spectrometry.
Talanta;
71(4): 1587-93, 2007 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19071495
15.
Study of the bioavailability of selenium in cows' milk after a supplementation of cow feed with different forms of selenium.
Anal Bioanal Chem;
385(1): 189-96, 2006 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-16520934
16.
Determination of total selenium and selenium distribution in the milk phases in commercial cow's milk by HG-AAS.
Anal Bioanal Chem;
381(6): 1145-51, 2005 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-15761740
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